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Ciliopathies

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https://www.readbyqxmd.com/read/28935136/coordinating-the-uncoordinated-unc119-trafficking-in-cilia
#1
REVIEW
Francesca Jean, David Pilgrim
Constructing the distinct subcellular environment of the cilium relies in a large part upon intraflagellar transport (IFT) proteins, which traffic cargo both to and within the cilium. However, evidence from the last 10 years suggests that IFT alone is not sufficient to generate the ciliary environment. One essential factor is UNC119, which interacts with known IFT molecular switches to transport ciliary cargos. Despite its apparent importance in ciliary trafficking though, human UNC119 mutations have only rarely been associated with diseases commonly linked with ciliopathies...
September 6, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28925789/motile-cilia-defects-in-diseases-other-than-primary-ciliary-dyskinesia-the-contemporary-diagnostic-and-research-role-for-transmission-electron-microscopy
#2
Hannah M Mitchison, Amelia Shoemark
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development...
September 19, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28921755/homozygous-mutation-in-the-nphp3-gene-causing-foetal-nephronophthisis
#3
Uzma Abdullah, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, Shahid M Baig
We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. With a thorough literature review, it also advocates for molecular assessment of ciliopathies to improve risk estimate for future pregnancies, and identify predisposed asymptomatic carriers...
October 2017: Nephrology
https://www.readbyqxmd.com/read/28913352/new-roles-of-the-primary-cilium-in-autophagy
#4
REVIEW
Yenniffer Ávalos, Daniel Peña-Oyarzun, Mauricio Budini, Eugenia Morselli, Alfredo Criollo
The primary cilium is a nonmotile organelle that emanates from the surface of multiple cell types and receives signals from the environment to regulate intracellular signaling pathways. The presence of cilia, as well as their length, is important for proper cell function; shortened, elongated, or absent cilia are associated with pathological conditions. Interestingly, it has recently been shown that the molecular machinery involved in autophagy, the process of recycling of intracellular material to maintain cellular and tissue homeostasis, participates in ciliogenesis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28893945/zfp423-znf423-regulates-cell-cycle-progression-the-mode-of-cell-division-and-the-dna-damage-response-in-purkinje-neuron-progenitors
#5
Filippo Casoni, Laura Croci, Camilla Bosone, Roberta D'Ambrosio, Aurora Badaloni, Davide Gaudesi, Valeria Barili, Justyna R Sarna, Lino Tessarollo, Ottavio Cremona, Richard Hawkes, Søren Warming, G Giacomo Consalez
The Zfp423/ZNF423 gene encodes a 30-Zn-finger transcription factor involved in key developmental pathways. While null Zfp423 mutants develop cerebellar malformations, the underlying mechanism remains unknown. ZNF423 mutations have been associated to Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia. ZNF423 participates in the DNA damage response, raising questions regarding its role as a regulator of neural progenitor cell cycle progression in cerebellar development. To characterize in vivo the function of ZFP423 in neurogenesis, we analyzed allelic murine mutants in which distinct functional domains are deleted...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28868293/the-kidney-in-bardet-biedl-syndrome-possible-pathogenesis-of-urine-concentrating-defect
#6
REVIEW
Miriam Zacchia, Valentina Di Iorio, Francesco Trepiccione, Marianna Caterino, Giovambattista Capasso
BACKGROUND: The ciliopathies are a growing number of disorders caused by mutations in genes involved in the function of the primary cilium. Bardet-Biedl syndrome (BBS) belongs to this group of disorders. In this setting, kidney dysfunction is highly variable, and urine concentrating defect, a common feature of multiple ciliopathies, has been described as the most frequent defect. Here we review the mechanism of urine concentration and describe the possible mechanism underling this defect in ciliopathies and especially BBS, based on the current body of literature...
July 2017: Kidney Diseases
https://www.readbyqxmd.com/read/28854412/wide-spread-cone-shaped-epiphyses-in-two-saudi-siblings-with-ellis-van-creveld-syndrome
#7
Abeer Al-Fardan, Mohammad M Al-Qattan
INTRODUCTION: Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES: We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting finding in our patients was the wide - spread cone-shaped epiphyses in the hands and feet...
August 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28852127/bbs4-regulates-the-expression-and-secretion-of-fstl1-a-protein-that-participates-in-ciliogenesis-and-the-differentiation-of-3t3-l1
#8
Victoria Prieto-Echagüe, Sukanya Lodh, Laura Colman, Natalia Bobba, Leonardo Santos, Nicholas Katsanis, Carlos Escande, Norann A Zaghloul, Jose L Badano
Bardet-Biedl syndrome is a model ciliopathy. Although the characterization of BBS proteins has evidenced their involvement in cilia, extraciliary functions for some of these proteins are also being recognized. Importantly, understanding both cilia and cilia-independent functions of the BBS proteins is key to fully dissect the cellular basis of the syndrome. Here we characterize a functional interaction between BBS4 and the secreted protein FSTL1, a protein linked to adipogenesis and inflammation among other functions...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28846093/super-resolution-microscopy-reveals-that-disruption-of-ciliary-transition-zone-architecture-causes-joubert%C3%A2-syndrome
#9
Xiaoyu Shi, Galo Garcia Iii, Julie C Van De Weghe, Ryan McGorty, Gregory J Pazour, Dan Doherty, Bo Huang, Jeremy F Reiter
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its membrane. We defined the three-dimensional arrangement of key proteins in the transition zone using two-colour stochastic optical reconstruction microscopy (STORM). NPHP and MKS complex components form nested rings comprised of nine-fold doublets. JBTS-associated mutations in RPGRIP1L or TCTN2 displace certain transition-zone proteins...
August 28, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28829391/a-rare-form-of-retinal-dystrophy-caused-by-hypomorphic-nonsense-mutations-in-cep290
#10
Susanne Roosing, Frans P M Cremers, Frans C C Riemslag, Marijke N Zonneveld-Vrieling, Herman E Talsma, Francoise J M Klessens-Godfroy, Anneke I den Hollander, L Ingeborgh van den Born
PURPOSE: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. METHODS: Extensive clinical and ophthalmologic assessment was performed on two siblings with OT and long-term follow up data were analyzed. Subsequently, whole exome sequencing (WES) and Sanger sequence analysis of CEP290 was performed in the two siblings...
August 22, 2017: Genes
https://www.readbyqxmd.com/read/28816198/lingual-frenectomy-in-joubert-syndrome
#11
Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree Sankeshwari
AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28800606/whole-exome-sequencing-as-a-diagnostic-tool-for-patients-with-ciliopathy-like-phenotypes
#12
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations in predominant Bardet-Biedl syndrome (BBS) genes had previously been excluded. Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy...
2017: PloS One
https://www.readbyqxmd.com/read/28771248/interpreting-the-clinical-significance-of-combined-variants-in-multiple-recessive-disease-genes-systematic-investigation-of-joubert-syndrome-yields-little-support-for-oligogenicity
#13
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, Christine R Isabella, Hannah M Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/oligogenicity or "triallelism" or to act as genetic modifiers.MethodsUsing the recessive ciliopathy Joubert syndrome (JBTS) as a model, we investigated these possibilities systematically, relying on NGS of known JBTS genes in a large JBTS and two control cohorts.Results65% of affected individuals had a recessive genetic cause, while 4...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726664/expanded-phenotype-of-tmem67-gene-mutation-case-report
#14
T Tkemaladze, G Melikishvili, V Kherkheulidze, A Melikishvili, T Davitaia
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3)...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28724397/partial-uniparental-isodisomy-of-chromosome-16-unmasks-a-deleterious-biallelic-mutation-in-ift140-that-causes-mainzer-saldino-syndrome
#15
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E Davis
BACKGROUND: The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite the advances in gene discovery, this group of entities continues to pose a diagnostic challenge, in part due to significant genetic and phenotypic heterogeneity and variability. We consulted a pediatric case from asymptomatic, non-consanguineous parents who presented as a suspected ciliopathy due to a constellation of retinal, renal, and skeletal findings...
July 19, 2017: Human Genomics
https://www.readbyqxmd.com/read/28717663/refining-genotype-phenotype-correlation-in-alstr%C3%A3-m-syndrome-through-study-of-primary-human-fibroblasts
#16
Jian-Hua Chen, Tarekegn Geberhiwot, Timothy G Barrett, Richard Paisey, Robert K Semple
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS: ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28710492/nek1-kinase-domain-structure-and-its-dynamic-protein-interactome-after-exposure-to-cisplatin
#17
Talita D Melo-Hanchuk, Priscila Ferreira Slepicka, Gabriela Vaz Meirelles, Fernanda Luisa Basei, Diogo Ventura Lovato, Daniela Campos Granato, Bianca Alves Pauletti, Romenia Ramos Domingues, Adriana Franco Paes Leme, Alessandra Luiza Pelegrini, Guido Lenz, Stefan Knapp, Jonathan M Elkins, Jörg Kobarg
NEK family kinases are serine/threonine kinases that have been functionally implicated in the regulation of the disjunction of the centrosome, the assembly of the mitotic spindle, the function of the primary cilium and the DNA damage response. NEK1 shows pleiotropic functions and has been found to be mutated in cancer cells, ciliopathies such as the polycystic kidney disease, as well as in the genetic diseases short-rib thoracic dysplasia, Mohr-syndrome and amyotrophic lateral sclerosis. NEK1 is essential for the ionizing radiation DNA damage response and priming of the ATR kinase and of Rad54 through phosphorylation...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710093/the-ciliary-membrane-associated-proteome-reveals-actin-binding-proteins-as-key-components-of-cilia
#18
Priyanka Kohli, Martin Höhne, Christian Jüngst, Sabine Bertsch, Lena K Ebert, Astrid C Schauss, Thomas Benzing, Markus M Rinschen, Bernhard Schermer
Primary cilia are sensory, antennae-like organelles present on the surface of many cell types. They have been involved in a variety of diseases collectively termed ciliopathies. As cilia are essential regulators of cell signaling, the composition of the ciliary membrane needs to be strictly regulated. To understand regulatory processes at the ciliary membrane, we report the targeting of a genetically engineered enzyme specifically to the ciliary membrane to allow biotinylation and identification of the membrane-associated proteome...
September 2017: EMBO Reports
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#19
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28700940/in%C3%A2-vitro-modeling-using-ciliopathy-patient-derived-cells-reveals-distinct-cilia-dysfunctions-caused-by-cep290-mutations
#20
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A English, Elizabeth M Semler, Jacklyn Mahgerefteh, Artur V Cideciyan, Tiansen Li, Brian P Brooks, Meral Gunay-Aygun, Samuel G Jacobson, Tiziana Cogliati, Christopher J Westlake, Anand Swaroop
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein was reduced in LCA fibroblasts with no detectable impact on cilia; however, optic cups derived from induced pluripotent stem cells (iPSCs) of CEP290-LCA patients displayed less developed photoreceptor cilia. Lack of CEP290 in JSRD fibroblasts resulted in abnormal cilia and decreased ciliogenesis...
July 11, 2017: Cell Reports
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